2026-05-05T19:35:11Zhttps://uvadoc.uva.es/oai/request

oai:uvadoc.uva.es:10324/661102025-03-03T07:19:57Zcom_10324_1181com_10324_931com_10324_894col_10324_1387

Deletions of specific exons of FHOD3 detected by next‐generation sequencing are associated with hypertrophic cardiomyopathy Ochoa, Juan P. Lopes, Luis R. Perez Barbeito, Marlene Cazón Varela, Laura Torre Carpente, Maria M. de la Sonicheva‐Paterson, Natalia Uña Iglesias, David de Quinn, Ellen Kuzmina‐Krutetskaya, Svetlana Garrote Adrados, José Antonio Elliott, Perry M. Monserrat, Lorenzo Cardiología Genética Miocardiopatía Hipertrófica Familiar next-generation sequencing Despite new strategies, such as evaluating deep intronic variants and new genes in whole-genome-sequencing studies, the diagnostic yield of genetic testing in hypertrophic cardiomyopathy (HCM) is still around 50%. FHOD3 has emerged as a novel disease-causing gene for this phenotype, but the relevance and clinical implication of copy-number variations (CNVs) have not been determined. In this study, CNVs were evaluated using a comparative depth-of-coverage strategy by next-generation sequencing (NGS) in 5493 HCM probands and 2973 disease-controls. We detected three symmetrical deletions in FHOD3 that involved exons 15 and 16 in three HCM families (no CNVs were detected in the control group). These exons are part of the diaphanous inhibitory domain of FHOD3 protein, considered a cluster of mutations for HCM. The clinical characteristics of the affected carriers were consistent with those reported in FHOD3 in previous studies. This study highlights the importance of performing CNV analysis systematically in NGS genetic testing panels for HCM, and reinforces the relevance of the FHOD3 gene in the disease. 2024-02-09T20:01:37Z 2024-02-09T20:01:37Z 2024-02-09T20:01:37Z 2020 info:eu-repo/semantics/article Clin Genet. 2020 Jul;98(1):86-90. doi: 10.1111/cge.13759. Epub 2020 May 11. PMID: 32335906. 0009-9163 https://uvadoc.uva.es/handle/10324/66110 10.1111/cge.13759 86 1 90 Clinical Genetics 98 1399-0004 spa http://dx.doi.org/10.1111/cge.13759 info:eu-repo/semantics/openAccess John Wiley & Sons Ltd John Wiley & Sons Ltd